The patient described represents the first reported case of partial deletion 10q. The patient is compared to the partial trisomy 10q syndrome.

No abstract

A female infant is reported with duplication/deficiency of chromosome number 18 due to a familial pericentric inversion of chromosome 18. This patient had many of the classical findings of trisomy 18.

Severe mental retardation, growth failure, microcephaly, micrognathia, cleft palate, hooked nose, low‐set thin flabby ears, pronounced elongated philtrum, and generalized decreased subcutaneous tissue characterized a 5 year 9 month old female with karyotype 47,XX, + 15, del(15)(q15).